Abstract：
:Ubiquitin-specific protease 9, Y-linked (USP9Y), is a protein encoded by the Y chromosome. Its precise function in the cell is unknown, although a role in the regulation of protein turnover has been postulated. Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of spermatogenesis. We have identified a novel mutation, SM1, located in exon 25 of USP9Y (c.3642G-->A), which results in an amino acid substitution (p.V1214I). The mutation is in close linkage (four bases distant) from a silent mutation, referred to as M222 (p.E1212E, c.3636G-->A). In our male population (n = 374), SM1 was found in one individual (0.3%) who belongs to the recently described haplogroup R1b3h, defined by the U152 SNP. This new mutation is expected to represent a new haplogroup, (R1b1c10a); therefore, within our population of individuals from haplogroup R1b3h (R1b110) (n = 16), it has a frequency of 6.3% (95% CI: 2.7-9.9%).
journal_name
Biochem Genetjournal_title
Biochemical geneticsauthors
Sims LM,Ballantyne Jdoi
10.1007/s10528-007-9139-1subject
Has Abstractpub_date
2008-04-01 00:00:00pages
154-61issue
3-4eissn
0006-2928issn
1573-4927journal_volume
46pub_type
杂志文章abstract：:The tissue distribution of activin receptor-like kinase 7 (Alk7) expression, the signaling ability of Alk7 variants, and Alk7 expression in response to β3-adrenergic receptor activation were examined. Expression levels of Alk7 varied greatly among tissues but were highest in white adipose tissue and brown adipose tiss...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-012-9555-8
更新日期：2013-04-01 00:00:00
abstract：:Phenol sulfotransferase (PST) catalyzes the sulfate conjugation of catechol and phenolic drugs and xenobiotic compounds. Platelets and other tissues contain at least two forms of PST, forms that have been designated the "TL" and the "TS" forms. We measured the thermal stability of platelet TS PST in blood samples from...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00499627
更新日期：1984-12-01 00:00:00
abstract：:The nucleoside monophosphate kinases, adenylate kinase (AK), guanylate kinase (GUK), and uridine monophosphate kinase (UMPK), were studied electrophoretically and quantitatively in density gradient fractions of human red cells from normal adults which contain red cells of differing mean age. The enzymes were found to ...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00484542
更新日期：1978-12-01 00:00:00
abstract：:Skeletal muscle tissues from many species of salmonid fish are known to exhibit a set of three of five isozymes for A4-type lactate dehydrogenase (L-lactate: NAD oxidoreductase, E.C. 1.1.1.27), but the genetic basis for this isozyme system has not previously been assessed. This isozyme system was purified to homogenei...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00484099
更新日期：1977-08-01 00:00:00
abstract：:The quantitative and qualitative distributions of gangliosides were determined in the cerebrum, cerebellum, and brain stem of five inbred strains (C57BL/6J, DBA/2J, LG/J, C3H/HeJ, BALB/cJ) of mice at 21 days of age. Genetic differences were found among the strains for wet weight, absolute amount of gangliosides per re...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00484473
更新日期：1979-02-01 00:00:00
abstract：:The extent of naturally occurring variations of enzyme locus expression was determined for three tissues (liver, muscle, and eye) in two species of sunfish (Centrarchidae), the green sunfish (Lepomis cyanellus) and the redear sunfish (L. microlophus). The genetic basis for species differences in tissue enzyme specific...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00499484
更新日期：1984-10-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00483979
更新日期：1977-10-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00483996
更新日期：1981-08-01 00:00:00
abstract：:Salvia miltiorrhiza is a well-known medicinal plant and functional food in Asia. The range of quality among its germplasms is irregular, which inevitably affects its health and economic benefits. We established a system comprising phenotypic characteristics, ISSR markers, and active constituents to facilitate the comp...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-013-9600-2
更新日期：2013-10-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00498965
更新日期：1979-04-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00484728
更新日期：1978-08-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF02396062
更新日期：1989-12-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-009-9316-5
更新日期：2010-04-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00499635
更新日期：1984-12-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-015-9704-y
更新日期：2016-02-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00502790
更新日期：1986-04-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00554146
更新日期：1991-08-01 00:00:00
abstract：:The structural characterization of a third type of alpha chain, detected in the hemoglobin of sheep also possessing the alpha Leu and the II alpha His chains, is reported. The new alpha-chain variant is an allele of the common alpha Leu chain controlled by the 1 alpha locus and differs from it in the replacement of th...
journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF02395389
更新日期：1983-02-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00499476
更新日期：1984-10-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-018-9866-5
更新日期：2018-12-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00554823
更新日期：1990-02-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1023/b:bigi.0000034431.15308.57
更新日期：2004-08-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-008-9153-y
更新日期：2008-06-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：
更新日期：1996-04-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00484399
更新日期：1980-06-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF02401798
更新日期：1989-04-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00502977
更新日期：1986-02-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/s10528-012-9548-7
更新日期：2013-02-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：10.1007/BF00483751
更新日期：1978-10-01 00:00:00
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journal_title：Biochemical genetics
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
